Canonical Allele Identifier: CA505743414
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11230827A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120151A>T , CM000681.2:g.11120151A>T GRCh38
NC_000019.9:g.11230827A>T , CM000681.1:g.11230827A>T GRCh37
NC_000019.8:g.11091827A>T NCBI36
NG_009060.1:g.35771A>T , LRG_274:g.35771A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2163A>T ENSP00000252444.6:p.Thr721=
ENST00000559340.2:c.1765A>T ENSP00000453696.2:p.Arg589Trp
ENST00000560467.2:c.1785A>T ENSP00000453513.2:p.Thr595=
ENST00000558518.6:c.1905A>T MANE Select ENSP00000454071.1:p.Thr635=
ENST00000252444.9:c.2159A>T
ENST00000455727.6:c.1401A>T ENSP00000397829.2:p.Thr467=
ENST00000535915.5:c.1782A>T ENSP00000440520.1:p.Thr594=
ENST00000545707.5:c.1524A>T ENSP00000437639.1:p.Thr508=
ENST00000557933.5:c.1905A>T ENSP00000453557.1:p.Thr635=
ENST00000558013.5:c.1905A>T ENSP00000453346.1:p.Thr635=
ENST00000558518.5:c.1905A>T ENSP00000454071.1:p.Thr635=
ENST00000559340.1:c.486A>T
NM_000527.4:c.1905A>T , LRG_274t1:c.1905A>T NP_000518.1:p.Thr635=
NM_001195798.1:c.1905A>T NP_001182727.1:p.Thr635=
NM_001195799.1:c.1782A>T NP_001182728.1:p.Thr594=
NM_001195800.1:c.1401A>T NP_001182729.1:p.Thr467=
NM_001195803.1:c.1524A>T NP_001182732.1:p.Thr508=
XM_011528010.1:c.1905A>T XP_011526312.1:p.Thr635=
XM_011528011.1:c.1524A>T XP_011526313.1:p.Thr508=
XR_244074.2:n.1915A>T
XM_011528010.2:c.1905A>T XP_011526312.1:p.Thr635=
XR_001753685.2:n.2022A>T
XR_001753686.2:n.1882A>T
NM_000527.5:c.1905A>T MANE Select NP_000518.1:p.Thr635=
NM_001195798.2:c.1905A>T NP_001182727.1:p.Thr635=
NM_001195799.2:c.1782A>T NP_001182728.1:p.Thr594=
NM_001195800.2:c.1401A>T NP_001182729.1:p.Thr467=
NM_001195803.2:c.1524A>T NP_001182732.1:p.Thr508=